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Abcc9 Gene Detail
Summary
  • Symbol
    Abcc9
  • Name
    ATP-binding cassette, sub-family C member 9
  • Synonyms
    Sur2, SUR2A, SUR2B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352630
    NCBI Gene: 20928
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:142533588-142648041 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 74.35 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4379 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352630
 protein coding gene Chr6:142533588-142648472 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031468
 protein coding gene Chr6:147386217-147506555 (-)
A/J MGP_AJ_G0031443
 protein coding gene Chr6:141594212-141710376 (-)
AKR/J MGP_AKRJ_G0031371
 protein coding gene Chr6:145811297-145929622 (-)
BALB/cJ MGP_BALBcJ_G0031450
 protein coding gene Chr6:141368267-141483374 (-)
C3H/HeJ MGP_C3HHeJ_G0031172
 protein coding gene Chr6:145851897-145967878 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031912
 protein coding gene Chr6:151434349-151553063 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029036
 protein coding gene Chr6:140426763-140538886 (-)
CAST/EiJ MGP_CASTEiJ_G0030540
 protein coding gene Chr6:145418428-145546450 (-)
CBA/J MGP_CBAJ_G0031132
 protein coding gene Chr6:157174676-157320101 (-)
DBA/2J MGP_DBA2J_G0031289
 protein coding gene Chr6:140409756-140523673 (-)
FVB/NJ MGP_FVBNJ_G0031240
 protein coding gene Chr6:139179036-139292798 (-)
LP/J MGP_LPJ_G0031373
 protein coding gene Chr6:147527007-147647879 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031280
 protein coding gene Chr6:161079559-161199862 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031944
 protein coding gene Chr6:145641415-145757339 (-)
PWK/PhJ MGP_PWKPhJ_G0030267
 protein coding gene Chr6:138908119-139022238 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030091
 protein coding gene Chr6:143822272-143945360 (-)
WSB/EiJ MGP_WSBEiJ_G0030633
 protein coding gene Chr6:146255682-146372338 (-)



Homology
more
  • Human Ortholog
    ABCC9, ATP binding cassette subfamily C member 9
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCC9, ATP binding cassette subfamily C member 9
  • Synonyms
    ABC37, ATFB12, CANTU, CMD1O, IDMYS, SUR2
  • Links
    NCBI Gene ID: 10060
    neXtProt AC: NX_O60706
    UniProt: O60706

  • Chr Location
    12p12.1; chr12:21797389-21942543 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Abcc9 mouse models; 4 with human ABCC9 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    50 phenotypes from 6 alleles in 5 genetic backgrounds
    15 phenotypes from multigenic genotypes
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    117
  • GO References
    27
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    839
  • Tissues
    117
  • cDNA Data
    10
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030249 Ensembl Gene Model | MGI Sequence Detail 114454 C57BL/6J ±  kb
    transcript ENSMUST00000100827 Ensembl | MGI Sequence Detail 7306 Not Applicable  
    polypeptide ENSMUSP00000098390 Ensembl | MGI Sequence Detail 1546 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000003564 ATP-binding cassette sub-family C member 9
      (term hierarchy)
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR003439 ABC transporter-like, ATP-binding domain
      IPR017871 ABC transporter-like, conserved site
      IPR011527 ABC transporter type 1, transmembrane domain
      IPR036640 ABC transporter type 1, transmembrane domain superfamily
      IPR000388 ATP-binding cassette sub-family C member 8/9
      IPR001475 ATP-binding cassette subfamily C member 9
      IPR047080 ATP-binding cassette sub-family C member 9, ATP-binding cassette domain 1
      IPR050173 ATP-binding cassette transporter C
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    • GlyGen
      P70170 3 sites, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 1
      cDNA 10
      Primer pair 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-36495, MGI:107915, MGI:1889815, MGI:1889833
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 11
      Diseases 3
      Gene Ontology 27
      Phenotypes 34
    • Earliest
      J:9177 Williams T, et al., The mouse surfeit locus contains a very tight cluster of four housekeeping genes that is conserved through evolution. Proc Natl Acad Sci U S A. 1988 May;85(10):3527-30
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory